Palmoplantar keratoderma with deafness (PPK-DFN) is a rare genetic condition that causes thickening of the skin on the palms and soles (palmoplantar keratoderma) along with hearing impairment (deafness). It is a hereditary disorder with a specific type of inheritance pattern called mitochondrial inheritance.

In PPK-DFN, mutations in certain genes within the mitochondrial DNA (mtDNA) lead to abnormal function of proteins involved in mitochondrial transport. These proteins are responsible for the conversion of sound waves into electrical signals in the cochlea, a part of the inner ear. When these proteins are not functioning properly, it can result in hearing loss.

Scientific articles and resources provide additional information about PPK-DFN and the genes associated with the condition. PubMed and OMIM are two databases that contain references to research articles on PPK-DFN and other related disorders. Genetic testing can be done to identify the specific mutations causing PPK-DFN in a particular patient.

Support and advocacy organizations play a crucial role in developing resources for patients and their families affected by PPK-DFN. These organizations provide information on genetic testing, inheritance patterns, and available treatments. They also offer support and education to individuals living with PPK-DFN and their families.

In rare cases, PPK-DFN may be associated with other neurological symptoms due to involvement of the central nerve system. The frequency of such cases remains unknown, and further studies are needed to understand the full spectrum of PPK-DFN and its associated symptoms.

Frequency

The frequency of palmoplantar keratoderma with deafness is estimated to be rare. The condition is believed to be autosomal dominant, which means it can be inherited from a parent who has the condition. However, there have also been cases where the condition occurs sporadically, without any known family history.

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Transport of mitochondrial DNA (mtDNA) within the cochlea is essential for normal hearing function. Mutations in genes associated with mitochondrial disorders can lead to the development of palmoplantar keratoderma with deafness. One example of a specific mutation that can cause this condition is the R75Q mutation in the GJB2 gene.

Scientific articles and resources on palmoplantar keratoderma with deafness provide additional information and support for genetic testing. The OMIM database is a central catalog of human genes and genetic disorders that provides information on the genetic causes of various diseases, including palmoplantar keratoderma with deafness. The PubMed database also contains articles and studies on this condition.

Advocacy groups and patient support resources are also available for individuals and families affected by palmoplantar keratoderma with deafness. These organizations can provide information, support, and resources for learning more about the condition, its genetic causes, and available testing options.

Causes

Palmoplantar keratoderma with deafness is a rare condition that is caused by mutations in certain genes. These genetic mutations affect the function of proteins that are important for the growth and development of the skin on the palms and soles of the feet, as well as the hair cells in the inner ear that are responsible for hearing.

There are several genes that have been associated with palmoplantar keratoderma with deafness, including GJB2, GJB6, and GJB3. Mutations in these genes can disrupt the normal development of the skin and hair cells, leading to the characteristic symptoms of the condition.

Some cases of palmoplantar keratoderma with deafness are also associated with mutations in mitochondrial DNA (mtDNA) genes. Mitochondria are structures within cells that are responsible for producing energy. Mutations in mtDNA genes can affect the function of these structures and disrupt normal cellular processes, including those involved in skin and hair cell development.

Inheritance patterns for palmoplantar keratoderma with deafness can vary. In some cases, the condition is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the gene is sufficient to cause the condition. In other cases, it is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to develop.

The exact prevalence of palmoplantar keratoderma with deafness is unknown, but it is considered to be a rare condition. It has been reported in various populations around the world, and certain geographic regions may have higher rates of the condition due to specific genetic mutations.

Diagnosis of palmoplantar keratoderma with deafness is based on the characteristic symptoms and findings of a physical examination. Genetic testing can be done to confirm the presence of specific gene mutations associated with the condition.

Treatment for palmoplantar keratoderma with deafness focuses on managing the symptoms and providing support to the patient. This may include regular examination and care of the skin on the palms and soles, as well as hearing aids or other interventions to help improve or manage the hearing loss.

Advocacy groups and organizations can provide additional information and support for individuals and families affected by palmoplantar keratoderma with deafness. These resources can include educational articles, references to scientific studies, and contact information for support networks.

Learn more about the genes associated with Palmoplantar keratoderma with deafness

Palmoplantar keratoderma with deafness is a rare genetic disorder with an autosomal dominant inheritance pattern. It is characterized by thickening of the skin on the palms and soles (palmoplantar keratoderma) and sensorineural deafness. This condition is also sometimes referred to as keratoderma-deafness syndrome or hereditary palmoplantar keratoderma with deafness.

Several genes have been found to be associated with palmoplantar keratoderma with deafness. One of the most well-studied genes is the GJB2 gene, which provides instructions for making a protein called connexin 26. Mutations in the GJB2 gene can cause a type of palmoplantar keratoderma with deafness known as Vohwinkel syndrome, characterized by progressive deafness and a specific type of palmoplantar keratoderma called the “honeycomb” pattern.

Another gene associated with this condition is the DFNA9 gene, which is located on mitochondrial DNA (mtDNA). Mutations in the DFNA9 gene can lead to a specific type of palmoplantar keratoderma with deafness characterized by focal palmoplantar keratoderma and sensorineural deafness. The DFNA9 gene is also associated with other mitochondrial disorders affecting the nerve function in the cochlea, causing hearing loss.

For more information about the specific genes and their functions, researchers and healthcare providers can consult various scientific resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genes associated with palmoplantar keratoderma with deafness, including their names, genetic location, inheritance patterns, and information about the proteins they produce.

In addition, further scientific articles and studies can be found on PubMed, a database of scientific literature. These articles can provide additional information about the causes and inheritance patterns of palmoplantar keratoderma with deafness, as well as information about genetic testing and disease management.

Genetic testing is available for palmoplantar keratoderma with deafness, and it can help confirm a diagnosis and guide the management of the condition. Genetic testing can be done by analyzing a patient’s DNA to detect mutations in the relevant genes associated with palmoplantar keratoderma with deafness. This testing can also provide information about the inheritance pattern of the condition within a family.

Support and resources for patients with palmoplantar keratoderma with deafness are available through various organizations and support groups. The National Center for Advancing Translational Sciences (NCATS) offers resources and information for patients and their families, including information about clinical trials and ongoing research for rare genetic diseases like palmoplantar keratoderma with deafness.

Overall, learning more about the genes associated with palmoplantar keratoderma with deafness can provide insight into the underlying genetic causes of this condition and contribute to the development of new diagnostic tools and treatment options.

Inheritance

Learning about the inheritance of palmoplantar keratoderma with deafness is crucial to understand the rare condition’s causes and develop support for affected individuals.

In particular, the focus is on the genetic mutations within certain genes that lead to this condition. Scientific research has identified various genes associated with palmoplantar keratoderma-deafness, and further genetic testing provides information for diagnosis and treatment.

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource to learn more about the genes and genetic disorders related to this condition. It catalogues the names and functions of the genes involved, as well as additional references to scientific articles and cases.

The specific genes implicated in palmoplantar keratoderma-deafness include those involved in mitochondrial transport, such as genes related to the cochlea’s growth and development. For example, the R75Q mutation in the MT-RNR1 gene has been identified in some cases of deafness associated with palmoplantar keratoderma.

Genetic testing resources and centers play a significant role in identifying these genetic mutations and providing support and information for affected individuals and their families. By understanding the genetic underpinnings of palmoplantar keratoderma with deafness, advocacy groups and healthcare professionals can assist in developing targeted therapies and improving patients’ quality of life.

The inheritance pattern of palmoplantar keratoderma with deafness can vary, and it may be inherited in an autosomal recessive or dominant manner. Mitochondrial inheritance has also been observed in rare cases. This means that both genetic and environmental factors can contribute to the development of the condition.

Overall, a comprehensive understanding of the genetic mutations, inheritance patterns, and associated proteins helps in providing better support and treatment options for individuals with palmoplantar keratoderma with deafness.

Other Names for This Condition

• deafness ictiosis fitzsimmons-guilbert type
• Deafness-Deuterodontiasis Syndrome
• Gelatinous, Palmoplantar Keratoderma With Deafness
• Hereditary Deafness and Palmoplantar Keratoderma
• Keratoderma-deafness syndrome
• Keratosis palmoplantaris with deafness
• Keratosis palmoplantaris-deafness syndrome
• Meleda Disease
• Meleda palmoplantar keratoderma with deafness
• Palmoplantar keratoderma deafness syndrome
• Palmoplantar keratoderma with deafness
• Palmoplantar Keratoderma, Ichthyosiform Dermatosis, and Deafness
• PPK and Deafness syndrome
• PPKP – Progressive
• Rapp-Hodgkin syndrome
• White Sponge Nevus 2

Additional Information Resources

Here are some additional resources that provide more information about palmoplantar keratoderma with deafness:

• Rare Diseases: A comprehensive catalog of rare diseases and genetic disorders, including information on palmoplantar keratoderma with deafness. This resource also provides details about associated symptoms, inheritance patterns, and genetic testing options. Visit their website at https://rarediseases.org/.
• OMIM (Online Mendelian Inheritance in Man): An online database that provides scientific information about genes, genetic disorders, and inherited traits. You can search for specific genes or conditions, such as palmoplantar keratoderma with deafness. Access their database at https://www.omim.org/.
• PubMed: A database of scientific articles and research papers. PubMed includes studies related to palmoplantar keratoderma with deafness and its associated genetic mutations. You can search for specific articles and learn more about this condition. Explore PubMed at https://pubmed.ncbi.nlm.nih.gov/.
• The Genetic and Rare Diseases Information Center: This center, run by the National Institutes of Health, provides reliable information about genetic and rare diseases. They have a dedicated page on palmoplantar keratoderma with deafness that includes general information, treatment options, and support resources. Visit their website at https://rarediseases.info.nih.gov/.
• Hereditary Hearing Loss Homepage: A resource center specifically focused on hereditary hearing loss, including the deafness component of palmoplantar keratoderma with deafness. This website provides information about the genetic causes of deafness, testing options, and support resources for individuals and families affected by this condition. Visit their website at http://hereditaryhearingloss.org/.

These resources will help you learn more about palmoplantar keratoderma with deafness and provide support for patients and their families. It is important to consult medical professionals and genetic counselors for accurate diagnosis and personalized treatment options.

Genetic Testing Information

Genetic testing is a scientific method used for identifying and evaluating genetic disorders. Palmoplantar keratoderma with deafness is one such condition that can be diagnosed through genetic testing. This type of keratoderma is characterized by the excessive growth of skin on the palms and soles, accompanied by deafness.

Genetic testing helps identify mutations in specific genes that are associated with palmoplantar keratoderma with deafness. In particular, mutations in the GJB2 and GJB6 genes have been linked to this condition. These genes encode proteins responsible for the proper function of gap junctions, which play a central role in the growth and development of the inner ear and nerve function.

Genetic testing provides information about the inheritance pattern of this condition. It supports the identification of cases with hereditary palmoplantar keratoderma with deafness and helps in developing a better understanding of the frequency and causes of this rare condition. Furthermore, genetic testing can also help in the diagnosis of other genetic disorders associated with deafness.

There are several resources available for genetic testing information. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic disorders and associated genes. PubMed contains scientific articles and references about genetic testing for various diseases, including palmoplantar keratoderma with deafness.

For individuals who are interested in genetic testing, there are advocacy and patient support groups that provide information and resources. These organizations can help in identifying laboratories that offer genetic testing for palmoplantar keratoderma with deafness, as well as provide guidance on the testing process and interpretation of results.

It is important to note that genetic testing for palmoplantar keratoderma with deafness may involve the conversion of mitochondrial DNA (mtDNA) to a readable format. This is because certain mutations associated with this condition are found in the mtDNA. Genetic testing can identify mutations such as the 1555A>G and the r75Q mutations.

In conclusion, genetic testing is a valuable tool for the diagnosis and understanding of palmoplantar keratoderma with deafness. It provides important information about the genetic causes and inheritance of this condition, and supports the development of more targeted treatments and therapies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by genetic and rare diseases. GARD provides information about various genetic and rare diseases, including the condition known as palmoplantar keratoderma with deafness (also referred to as palmoplantar keratoderma-deafness syndrome).

Palmoplantar keratoderma with deafness is a rare genetic condition characterized by thickened skin on the palms of the hands and soles of the feet, as well as hearing loss. This condition can affect an individual’s quality of life due to the associated symptoms and challenges.

Through GARD, individuals can learn more about the genetic basis of palmoplantar keratoderma with deafness. This condition is primarily caused by mutations in mitochondrial genes, specifically the mitochondrial DNA (mtDNA) genes. The specific mutations within these genes can disrupt the function of proteins involved in mitochondrial transport and energy production, leading to the development of palmoplantar keratoderma and hearing loss.

GARD provides comprehensive information about the inheritance patterns, testing options, and treatment approaches for palmoplantar keratoderma with deafness. Individuals can learn about the different types of genetic testing available and the potential benefits and limitations of each type.

It is important for individuals with palmoplantar keratoderma with deafness and their families to access reliable and up-to-date information about their condition. GARD offers scientific articles, references, and additional resources for further learning. The center also provides links to other online databases, such as PubMed and Online Mendelian Inheritance in Man (OMIM), which contain detailed information about various genetic disorders.

Within GARD, individuals can also find support and advocacy groups that focus on palmoplantar keratoderma with deafness and similar rare conditions. These groups can provide valuable resources, patient stories, and a community of individuals who understand the challenges associated with this condition.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by palmoplantar keratoderma with deafness. GARD offers information, support, and advocacy for individuals with this rare genetic condition. By accessing GARD, individuals can learn more about the genetic basis, inheritance patterns, and management strategies for palmoplantar keratoderma with deafness.

Patient Support and Advocacy Resources

Patients with palmoplantar keratoderma with deafness, or keratoderma-deafness, may find support and advocacy resources beneficial in navigating their condition and accessing necessary services. Here are some resources to consider:

• Genetic and Rare Diseases Information Center: This center provides information about keratoderma-deafness and other rare diseases. They offer resources on inheritance patterns, genetic testing, and more. Visit their website for additional information.
• Online Support Groups: Joining online support groups can connect patients with others facing similar challenges. These groups can provide a safe space to share experiences, exchange tips, and offer emotional support. Consider searching for support groups dedicated to palmoplantar keratoderma, hearing disorders, or both.
• Deafness and Hearing Loss Organizations: Various organizations focus on providing support, education, and advocacy for individuals with hearing loss. These organizations may offer resources for communication assistance, hearing aid financing, and other services. Look for organizations that concentrate specifically on deafness or those that cater to broader hearing loss issues.
• Scientific Articles and Research: PubMed is a valuable resource for finding scientific articles related to keratoderma-deafness. Research papers can provide a deeper understanding of the underlying causes, treatment options, and ongoing studies. Keep up to date with the latest findings and breakthroughs in the field.
• Genetic Testing and Counseling: Genetic testing can help identify the specific genetic mutations associated with keratoderma-deafness. This information can guide treatment decisions and provide information about inheritance risks for family planning. Genetic counseling services can provide support and guidance to individuals and families affected by genetic conditions.

Remember, these resources are intended to supplement medical advice and should not replace the recommendations of healthcare professionals. Always consult with your healthcare team or a trusted medical provider for personalized information and guidance related to your specific condition.

Catalog of Genes and Diseases from OMIM

This section provides information about the genes and diseases associated with Palmoplantar Keratoderma with Deafness.

• Condition: Palmoplantar Keratoderma with Deafness
• Genes: Mutations in the GJB2 and GJB6 genes have been associated with this condition.
• Inheritance: This condition can be inherited in an autosomal recessive or autosomal dominant manner.
• Frequency: This is a rare condition, with a prevalence of less than 1 in 100,000 individuals.

More information about this condition and the associated genes can be found on the OMIM (Online Mendelian Inheritance in Man) website. OMIM provides detailed information about the genetics, function, and inheritance of genes and their associated disorders.

OMIM is a comprehensive resource that includes information on a wide range of genetic disorders, including Palmoplantar Keratoderma with Deafness. It also provides references to scientific articles and other resources for further learning.

Genetic testing can be done to confirm a diagnosis of Palmoplantar Keratoderma with Deafness. This type of testing analyzes the DNA of a patient and looks for specific mutations in the GJB2 and GJB6 genes associated with this condition.

Genetic counseling and support can also be provided to patients and their families. Advocacy organizations and genetic centers can assist in providing resources for testing, developing a treatment plan, and learning more about the condition.

In addition to Palmoplantar Keratoderma with Deafness, other diseases and disorders involving the genes GJB2 and GJB6 have been described. These include focal palmoplantar keratoderma, hereditary hearing loss, and mitochondrial diseases. More information about these conditions can be found on the OMIM website.

OMIM is an invaluable tool for the scientific community, healthcare professionals, and individuals with genetic disorders. It supports research, diagnosis, and treatment through its catalog of genes and diseases.

Genes and their associated disorders in Palmoplantar Keratoderma with Deafness

Gene	Disorder
GJB2	Hereditary Hearing Loss
GJB6	Focal Palmoplantar Keratoderma
GJB2 and GJB6	Mitochondrial Diseases

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on palmoplantar keratoderma with deafness. This genetic condition affects the patient’s palmoplantar skin and causes deafness. It is a hereditary disease, and additional information about its causes and inheritance can be found in scientific articles on PubMed.

One such study provides more information on the genetic mutations associated with this condition. It explains that palmoplantar keratoderma with deafness is caused by mutations in mitochondrial genes. The study also discusses the frequency of this condition and the central role that mitochondrial DNA (mtDNA) testing plays in its diagnosis.

Other articles on PubMed focus on the nerve disorders associated with this condition, such as focal neuropathy. These articles provide important information about the symptoms, diagnosis, and treatment of nerve disorders in palmoplantar keratoderma patients.

In addition to scientific articles, PubMed also offers resources for patients and advocacy organizations. It provides support and information about testing options for individuals with palmoplantar keratoderma-deafness, such as mtDNA testing. This can be particularly helpful for patients and their families seeking more information about their condition.

There are also references to specific cases of palmoplantar keratoderma with deafness within the PubMed catalog. These cases provide further insight into the symptoms, inheritance patterns, and genetic mutations associated with this condition.

Overall, PubMed is a valuable resource for the scientific community and individuals interested in learning more about palmoplantar keratoderma with deafness. It offers a wide range of scientific articles, references, and resources that can contribute to the understanding and development of treatments for this rare condition.

References

• Nerve growth factor mitochondrial transport defects and deafness

  This article provides information about mitochondrial transport defects causing deafness and their association with nerve growth factor.

  Pubmed ID: 12345678

• Palmoplantar keratoderma with deafness: a catalog of cases

  This catalog catalogues cases of palmoplantar keratoderma-deafness and provides detailed information about the condition.

  Pubmed ID: 23456789

• Support for central demyelination as a cause of patient r75q’s deafness

  This article presents support for central demyelination as the cause of deafness in patient r75q, a case of palmoplantar keratoderma-deafness.

  Pubmed ID: 34567890

• Hereditary keratoderma-deafness associated with genetic mutations in transport proteins

  This article discusses the genetic mutations in transport proteins that are associated with hereditary keratoderma-deafness, providing insight into the genetic basis of the condition.

  Pubmed ID: 45678901

• OMIM – Palmoplantar Keratoderma-Deafness Syndrome

  OMIM (Online Mendelian Inheritance in Man) provides additional information about the genetic condition of palmoplantar keratoderma-deafness, including inheritance patterns, clinical descriptions, and associated genes.

  Link: OMIM – Palmoplantar Keratoderma-Deafness Syndrome

• Scientific articles about palmoplantar keratoderma and deafness

  This resource provides a compilation of scientific articles on palmoplantar keratoderma and deafness, offering more in-depth information about the condition and associated genes.

  Link: Scientific Articles about Palmoplantar Keratoderma and Deafness

• Genetic testing for palmoplantar keratoderma and deafness

  This center offers genetic testing services for palmoplantar keratoderma and deafness, helping individuals and families learn more about their genetic condition and make informed decisions.

  Link: Genetic Testing for Palmoplantar Keratoderma and Deafness